Could it be coeliac disease? New research provides definitive answer

1 Jan 2014

A simple genetic test costing just a few cents has been devised by a team of researchers at the UQ Diamantina Institute that will help thousands of people identify whether they are at risk of coeliac disease, while helping others avoid costly and invasive investigations.

With one in 60 Australian women, and one in 80 Australian men, believed to have coeliac disease, the test will have a significant impact on the community as it will provide a definitive yes or no answer.

The test determines whether patients who have particular symptoms also have specific genetic risk markers consistent with having coeliac disease. If a symptomatic patient tests positive to these genetic markers, and positive to serology markers, then endoscopy and biopsies are recommended to verify if they have the disease. If the patient returns a negative test, then further tests are avoided as well as a medically unnecessary use of a gluten-free diet.

UQ Diamantina Institute Director Professor Matt Brown said coeliac disease was a common condition that was often hard to diagnose or exclude using standard tests.

“Coeliac disease is an autoimmune digestive disease. Gluten intake in people with the disease damages the villi of the small intestine, hindering the absorption of nutrients from food,” Prof. Brown said.

“Obviously this disease impacts on sufferers greatly, their lifestyle and eating habits can be seriously affected. Being able to pinpoint those who are at risk or not will be a great relief for patients who suspect they may have the disease.

“Most importantly for sufferers of the incurable, life-long disease is that an early diagnosis and treatment can reduce the risk of adverse health complications.

“This is a great example of a condition where genetic tests offer substantial advantages for screening over what is currently available.”

Professor Brown and Associate Professor Emma Duncan, from the UQ Diamantina Institute based at Translational Research Institute in Brisbane, have been in collaboration with researchers from Walter and Eliza Hall Institute , US biotechnology company ImmusanT, and researchers from Barwon Health, Deakin University and Healthscope Pathology, to develop and trial the new diagnostic approach.

Associate Professor Duncan said the genetic testing offered new hope for patients at risk of the disease.

“For only a few cents we can test for five genetic markers that indicate if someone with symptoms is ‘at risk ‘ or ‘not at risk’. Those not at risk won’t need further costly and invasive investigations such as endoscopy. Overall, testing for the genetic markers with further blood tests will reduce the numbers of unnecessary endoscopy by up to 70%, a huge saving for the Australian health budget.

“However, it’s important to remember also that those with a genetic predisposition to the disease – the ‘at risk’ group - will not necessarily automatically ‘have’ coeliac disease,” she said.

It is not yet known why the disease develops in only some people with genetic risk factors.

If you are interested in finding out more about this research click here.